Incidental Mutation 'IGL02352:Egflam'
ID289528
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Egflam
Ensembl Gene ENSMUSG00000042961
Gene NameEGF-like, fibronectin type III and laminin G domains
Synonymsnectican, pikachurin
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02352
Quality Score
Status
Chromosome15
Chromosomal Location7206120-7398395 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 7234225 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 748 (N748S)
Ref Sequence ENSEMBL: ENSMUSP00000094238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058593] [ENSMUST00000096494] [ENSMUST00000160207]
Predicted Effect probably benign
Transcript: ENSMUST00000058593
AA Change: N748S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000055599
Gene: ENSMUSG00000042961
AA Change: N748S

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
FN3 35 123 4.52e-9 SMART
FN3 142 225 1.89e-11 SMART
low complexity region 256 273 N/A INTRINSIC
EGF_like 346 381 4.28e1 SMART
LamG 407 543 1.04e-34 SMART
EGF 563 602 3.48e-5 SMART
LamG 633 767 1.55e-33 SMART
EGF 787 820 4.35e-6 SMART
LamG 852 988 1.47e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000096494
AA Change: N748S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000094238
Gene: ENSMUSG00000042961
AA Change: N748S

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
FN3 35 123 4.52e-9 SMART
FN3 142 225 1.89e-11 SMART
low complexity region 256 273 N/A INTRINSIC
EGF_like 346 381 4.28e1 SMART
LamG 407 543 1.04e-34 SMART
EGF 563 602 3.48e-5 SMART
LamG 633 767 1.55e-33 SMART
EGF 787 820 4.35e-6 SMART
LamG 860 996 1.47e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160207
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160273
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mutants are viable and fertile under normal conditions. They exhibit abnormal photoreceptor ribbon synapses, resulting in alteration in synaptic signal transmission and visual function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A C 12: 72,895,055 probably null Het
Abca5 T A 11: 110,275,330 N1540I probably benign Het
Adamtsl5 T A 10: 80,343,728 probably null Het
Aldh2 T C 5: 121,575,897 E128G probably null Het
Anln A G 9: 22,368,412 V494A probably benign Het
Ano3 A T 2: 110,884,943 L50* probably null Het
Atp13a3 A G 16: 30,351,084 I392T probably damaging Het
C1qtnf5 A G 9: 44,108,334 E85G possibly damaging Het
Cacna1s A T 1: 136,093,252 probably benign Het
Ccdc150 G A 1: 54,272,521 R222H probably benign Het
Cdk5rap3 A T 11: 96,916,177 I9N probably damaging Het
Cmip A T 8: 117,411,255 probably benign Het
Cyp21a1 A G 17: 34,804,222 Y60H probably damaging Het
Cyp2d11 A G 15: 82,393,920 W10R possibly damaging Het
Dock10 A G 1: 80,505,661 Y2076H probably damaging Het
Fam227b A G 2: 126,146,254 probably benign Het
Fancd2 T A 6: 113,563,112 I654N probably damaging Het
Gm17018 G T 19: 45,577,054 A156S probably benign Het
Gm17727 A T 9: 35,777,884 M1K probably null Het
Hpf1 A G 8: 60,896,802 I155V probably benign Het
Hrh1 C A 6: 114,480,443 N228K probably benign Het
Igkv3-2 T C 6: 70,698,490 L8P probably damaging Het
Iqgap3 T C 3: 88,101,960 F734L probably benign Het
Kif5a T C 10: 127,243,501 Y276C probably damaging Het
Lax1 A T 1: 133,680,470 S178T possibly damaging Het
March6 C T 15: 31,509,759 C28Y probably damaging Het
Mylk3 T C 8: 85,355,302 T356A probably benign Het
Obscn T C 11: 59,001,027 E6893G probably benign Het
Olfr166 T C 16: 19,487,177 L113P probably damaging Het
Pgap2 G T 7: 102,236,139 V71F probably damaging Het
Prob1 T G 18: 35,652,840 E787A possibly damaging Het
Psmd2 C A 16: 20,656,941 D430E probably benign Het
Reln C A 5: 22,039,565 G805V possibly damaging Het
Serpinb9e A T 13: 33,257,820 probably benign Het
Sgsm2 G T 11: 74,892,074 probably benign Het
Slc38a9 A G 13: 112,690,186 I153V probably benign Het
Slco1b2 T A 6: 141,685,525 D628E probably damaging Het
Sult2a5 T C 7: 13,628,802 S145P probably benign Het
Sv2b T C 7: 75,136,449 T408A probably benign Het
Usp24 T C 4: 106,403,925 C1626R probably damaging Het
Wdr43 C T 17: 71,632,048 T217M possibly damaging Het
Wdr95 G A 5: 149,580,619 V155M probably damaging Het
Wsb1 G A 11: 79,251,012 L60F probably damaging Het
Wwp2 C T 8: 107,540,646 R297* probably null Het
Xkr6 T C 14: 63,819,707 Y356H unknown Het
Other mutations in Egflam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01600:Egflam APN 15 7219764 missense probably damaging 1.00
IGL02359:Egflam APN 15 7234225 missense probably benign 0.01
IGL02389:Egflam APN 15 7250078 missense probably benign 0.01
IGL02400:Egflam APN 15 7247053 missense probably benign 0.00
IGL02530:Egflam APN 15 7222812 missense probably damaging 1.00
IGL02892:Egflam APN 15 7289796 missense probably benign
R0047:Egflam UTSW 15 7253430 missense possibly damaging 0.56
R0047:Egflam UTSW 15 7253430 missense possibly damaging 0.56
R0345:Egflam UTSW 15 7289994 intron probably null
R0504:Egflam UTSW 15 7222758 missense probably damaging 1.00
R0532:Egflam UTSW 15 7234237 missense probably benign 0.19
R0573:Egflam UTSW 15 7242425 nonsense probably null
R0609:Egflam UTSW 15 7253523 missense possibly damaging 0.65
R0648:Egflam UTSW 15 7207709 missense probably damaging 1.00
R0653:Egflam UTSW 15 7250028 critical splice donor site probably null
R1099:Egflam UTSW 15 7252422 missense probably benign 0.00
R1711:Egflam UTSW 15 7289915 missense possibly damaging 0.85
R1842:Egflam UTSW 15 7303941 missense probably benign 0.00
R1964:Egflam UTSW 15 7247105 missense probably damaging 0.97
R2001:Egflam UTSW 15 7242567 missense probably benign 0.18
R2008:Egflam UTSW 15 7237804 missense possibly damaging 0.95
R2134:Egflam UTSW 15 7234279 missense probably damaging 0.97
R2852:Egflam UTSW 15 7219701 missense probably damaging 1.00
R2853:Egflam UTSW 15 7219701 missense probably damaging 1.00
R4257:Egflam UTSW 15 7254426 splice site probably null
R4346:Egflam UTSW 15 7234278 nonsense probably null
R4380:Egflam UTSW 15 7243869 missense possibly damaging 0.70
R4538:Egflam UTSW 15 7252437 missense probably damaging 1.00
R4746:Egflam UTSW 15 7224639 splice site probably null
R4909:Egflam UTSW 15 7219629 missense probably damaging 1.00
R5027:Egflam UTSW 15 7253644 missense probably benign 0.00
R5314:Egflam UTSW 15 7304012 missense probably damaging 1.00
R5439:Egflam UTSW 15 7224663 missense probably damaging 0.99
R5495:Egflam UTSW 15 7251241 missense probably damaging 1.00
R5626:Egflam UTSW 15 7251207 missense possibly damaging 0.89
R5931:Egflam UTSW 15 7243857 missense possibly damaging 0.49
R5977:Egflam UTSW 15 7318245 missense possibly damaging 0.94
R6258:Egflam UTSW 15 7234292 missense probably damaging 0.98
R6395:Egflam UTSW 15 7231695 missense probably damaging 1.00
R6497:Egflam UTSW 15 7251303 splice site probably null
R6736:Egflam UTSW 15 7219725 missense probably damaging 1.00
R7586:Egflam UTSW 15 7208601 missense probably damaging 1.00
R7764:Egflam UTSW 15 7318255 missense probably damaging 0.98
R7781:Egflam UTSW 15 7253746 missense probably null 0.94
R7842:Egflam UTSW 15 7251194 missense probably null 1.00
R7925:Egflam UTSW 15 7251194 missense probably null 1.00
R8011:Egflam UTSW 15 7247044 missense possibly damaging 0.89
R8080:Egflam UTSW 15 7398080 missense probably benign 0.09
X0024:Egflam UTSW 15 7304013 missense probably damaging 0.99
Posted On2015-04-16